RGD:10407029 Rat Genome Database

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Variant: RGD:10407029 -  Homo sapiens

RGD ID: 10407029
RS ID: rs797045919
ClinVar ID: CV207984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127824334  RPS26  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 56,436,260
GRCh38 12 56,042,476
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_1146:g.5575C>T
NG_023201.1:g.5575C>T
NC_000012.12:g.56042476C>T
NC_000012.11:g.56436260C>T
More... 		03/27/2018 nonsense pathogenic childhood|neonatal 1-9 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPS26
Accession:NM_001029
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKKRRNNGRAKKGRGHV*PIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDISEASVFDAYVLPKLYVKLHYCVSCAIH
SKVVRNRSREARKDRTPPPRFRPAGAAPRPPPKPM*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195166 CLINVAR
dbSNP (RS) rs797045919 CLINVAR
MedGen C2750080 CLINVAR
NCBI Gene RPS26 CLINVAR
OMIM 603701 CLINVAR
  613309 CLINVAR